Table 1. Twenty-Two Candidate Genes for Tetralogy of Fallot Investigated in this Study.
| Gene | Location (Based on NCBI36/hg18) | No. of Exons | Region Investigated (Gene, +/− 15 kb) |
No. of SNPs Genotyped |
|---|---|---|---|---|
| ACVR2A | Chr2: 148 319 040 to 148 404 862 | 11 | 115.82 | 4 |
| BOP (SMYD1) | Chr2: 88148 497 to 88 194 015 | 10 | 75.52 | 27 |
| CITED2 | Chr6: 139 735 092 to 139 737 478 | 2 | 32.87 | 4 |
| CRKL | Chr22: 19 601 714 to 19 637 889 | 3 | 66.18 | 5 |
| DHCR7 | Chr11: 70 823 105 to 70 837 125 | 9 | 44.02 | 5 |
| FGF10 | Chr5: 44 340 854 to 44 424 541 | 3 | 113.69 | 1 |
| FOLH1 | Chr11: 49124 764 to 49 186 798 | 20 | 92.03 | 5 |
| FOXH1 | Chr8: 145 670 317 to 145 672 526 | 3 | 32.21 | 4 |
| GATA4 | Chr8: 11 599 162 to 11 654 918 | 7 | 85.76 | 51 |
| HAND1 | Chr5: 153 834 726 to 153 838 017 | 2 | 33.29 | 6 |
| HAND2 | Chr4: 174 684 228 to 174 687 953 | 2 | 33.726 | 21 |
| HEY2 | Chr6: 126 112 425 to 126 124 107 | 5 | 41.68 | 3 |
| ISL1 | Chr5: 50 714 715 to 50 726 314 | 6 | 41.6 | 5 |
| MEF2C | Chr5: 88 051 922 to 88 214 780 | 12 | 192.9 | 29 |
| NKX2-5 | Chr5: 172 591 744 to 172 594 868 | 2 | 33.125 | 3 |
| PDGFRA | Chr4: 54 790 204 to 54 859 168 | 23 | 98.97 | 1 |
| PTPN11 | Chr12: 111 340 919 to 111 432 099 | 16 | 121.18 | 5 |
| SOX4 | Chr6: 21 701 951 to 21 706 826 | 1 | 34.876 | 3 |
| TBX1 | Chr22: 18 124 226 to 18 151 110 | 10 | 56.89 | 1 |
| TBX20 | Chr7: 35 208 568 to 35 259 767 | 8 | 81.2 | 9 |
| UFD1L | Chr22: 17 817 702 to 17 846 726 | 12 | 59.02 | 7 |
| VANGL2 | Chr1: 158 636 991 to 158 665 088 | 8 | 58.1 | 8 |